MTR - 5-methyltetrahydrofolate-homocysteine methyltransferase Gene
Also Known as MS; HMAG; cblG
Species: Homo sapiens
About MTR
This gene has 17 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.9) and 25 other tissues.
Summary
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
MTR Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000254.3 | NP_000245.2 | methionine synthase isoform 1 |
| NM_001291939.1 | NP_001278868.1 | methionine synthase isoform 2 |
| NM_001291940.2 | NP_001278869.1 | methionine synthase isoform 3 |
| NM_001410942.1 | NP_001397871.1 | methionine synthase isoform 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables methionine synthase activity |
IDA
IDA: Inferred from direct assay
|
16769880 | GOA |
| enables methionine synthase activity |
IMP
IMP: Inferred from mutant phenotype
|
23825108 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17288554 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cobalamin metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
23825108 | GOA |
| involved in methionine biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
23825108 | GOA |
MTR Protein Structure
S-methyl_trans: Homocysteine S-methyltransferase (30 - 339)
Pterin_bind: Pterin binding enzyme (371 - 582)
B12-binding_2: B12 binding domain (669 - 749)
B12-binding: B12 binding domain (774 - 865)
Met_synt_B12: Vitamin B12 dependent methionine synthase, activation domain (965 - 1247)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1265 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
methionine synthase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
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| Neural Tube Defects, Folate-Sensitive |
|
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| Disorders Of Intracellular Cobalamin Metabolism |
|
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| Homocystinuria |
|
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| Hyperhomocysteinemia |
|
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| Vitamin B12 Deficiency |
|
|
| Neural Tube Defects |
|
|
| Megaloblastic Anemia |
|
|
| Methylmalonic Acidemia |
|
|
| Homocysteinemia |
|
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| Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity |
|
|
| Vitamin Metabolic Disorder |
|
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| Epilepsy |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
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| Cerebrovascular Disease |
|
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| Adult Acute Lymphocytic Leukemia |
|
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| Cleft Lip |
|
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| Vascular Disease |
|
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| Myelomeningocele |
|
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| Anencephaly |
|
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| Cecal Benign Neoplasm |
|
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| Cecum Adenoma |
|
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| Amino Acid Metabolic Disorder |
|
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| Down Syndrome |
|
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| Migraine With Aura |
|
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| Non-Syndromic X-Linked Intellectual Disability 1 |
|
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| Glutamate Formiminotransferase Deficiency |
|
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| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
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| Pernicious Anemia |
|
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| Marfan Syndrome |
|
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| Heart Disease |
|
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| Ophthalmia Neonatorum |
|
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| Methylmalonic Aciduria, Cbla Type |
|
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| Hypermethioninemia |
|
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| Cleft Palate, Isolated |
|
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| Organic Acidemia |
|
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| Macrocytic Anemia |
|
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| Folate Malabsorption, Hereditary |
|
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| Choline Deficiency Disease |
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| Cardiovascular System Disease |
|
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| Deficiency Anemia |
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| Urethritis |
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| Colorectal Cancer |
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| Myocardial Infarction |
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| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
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| Lipoprotein Quantitative Trait Locus |
|
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| Autism Spectrum Disorder |
|
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| Autism |
|
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| Breast Cancer |
|
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| Orofacial Cleft |
|
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| Dyskeratosis Congenita |
|
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| Fanconi Anemia, Complementation Group A |
|
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| Non-Syndromic X-Linked Intellectual Disability |
|
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| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | MTR | VGNC | VGNC:68353 |
| Macaca mulatta | MTR | VGNC | VGNC:75078 |
| Rattus norvegicus | MTR | RGD | RGD:621283 |
| Mus musculus | MTR | MGD | MGI:894292 |
| Bos taurus | MTR | VGNC | VGNC:31749 |
| Canis familiaris | MTR | VGNC | VGNC:43491 |
| Others | MTR | NCBI |